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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Developmental medicine and child neurology, 2017-10, Vol.59 (10), p.1063-1070

2017

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Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

Blood, 2010-07, Vol.115 (26), p.5329-5337

2010

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A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.22-28

2006

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Structural modeling of mutant α-glucosidases resulting in a processing transport defect in Pompe disease

Journal of human genetics, 2009-06, Vol.54 (6), p.324-330

2009

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Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

Molecular genetics and metabolism, 2007, Vol.90 (1), p.49-57

2007

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High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.190-195

2009

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Response to Herbert et al

Genetics in medicine, 2017-11, Vol.19 (11), p.1283-1284

2017

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Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

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Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

Molecular genetics and metabolism, 2011-05, Vol.103 (1), p.12-17

2011

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Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.485-489

2012

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Design and validation of a metabolic disorder resequencing microarray (BRUM1)

Human mutation, 2010-07, Vol.31 (7), p.858-865

2010

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High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

The Journal of pediatrics, 2018-04, Vol.195, p.236-243.e3

2018

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Human mutation, 2004-01, Vol.23 (1), p.47-56

2004

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Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

JIMD Reports - Case and Research Reports, 2012/4, 2013-01, Vol.7, p.39-48

2013

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A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

Neuromuscular disorders : NMD, 2004-06, Vol.14 (6), p.371-374

2004

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Enzyme therapy for Pompe disease: from science to industrial enterprise

European journal of pediatrics, 2002-10, Vol.161 Suppl 1 (1), p.S106-S111

2002

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Endogenous Type II cGMP-dependent Protein Kinase Exists as a Dimer in Membranes and Can Be Functionally Distinguished from the Type I Isoforms

The Journal of biological chemistry, 1997-05, Vol.272 (18), p.11816-11823

1997

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Anti-alglucosidase alfa antibodies and infusion-associated reactions in 73 treated adult Pompe disease patients

Molecular genetics and metabolism, 2015-02, Vol.114 (2), p.S121-S121

2015

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Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene

Clinical genetics, 1998-05, Vol.53 (5), p.379-382

1998

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Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Human mutation, 1998, Vol.11 (3), p.209-215

1998

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Human Acid α-Glucosidase from Rabbit Milk Has Therapeutic Effect in Mice with Glycogen Storage Disease Type II

Human molecular genetics, 1999-11, Vol.8 (12), p.2145-2153

1999

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High frequency of acid a-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.190-195

2009

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Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

The Journal of biological chemistry, 1993-01, Vol.268 (3), p.2223-2231

1993

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Human lysosomal alpha-glucosidase. Characterization of the catalytic site

The Journal of biological chemistry, 1991-07, Vol.266 (21), p.13507-13512

1991

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N-glycans of recombinant human acid [alpha]-glucosidase expressed in the milk of transgenic rabbits

Glycobiology (Oxford), 2007-06, Vol.17 (6), p.600

2007

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Genotype–phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype

Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Structural modeling of mutant α-glucosidases resulting in a processing transport defect in Pompe disease

Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Response to Herbert et al

Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease

Design and validation of a metabolic disorder resequencing microarray (BRUM1)

High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

Enzyme therapy for Pompe disease: from science to industrial enterprise

Endogenous Type II cGMP-dependent Protein Kinase Exists as a Dimer in Membranes and Can Be Functionally Distinguished from the Type I Isoforms

Anti-alglucosidase alfa antibodies and infusion-associated reactions in 73 treated adult Pompe disease patients

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α-glucosidase gene

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Human Acid α-Glucosidase from Rabbit Milk Has Therapeutic Effect in Mice with Glycogen Storage Disease Type II

High frequency of acid a-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

Human lysosomal alpha-glucosidase. Characterization of the catalytic site

N-glycans of recombinant human acid [alpha]-glucosidase expressed in the milk of transgenic rabbits

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